Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

802 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
c CNG015 Congenital Diaphragmatic Hernia 58 6.639
2
HTS001 Hiatus Hernia 42 5.109
3
P DPH016 Diaphragmatic Hernia 3 40 4.786
4
DNN002 Donnai-Barrow Syndrome 38 3.772
5
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 24 3.392
6
FRY002 Fryns Syndrome 42 3.031
7
ACR038 Acromegaloid Features, Overgrowth, Cleft Palate and Hernia 6 2.905
8
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.905
9
ABD010 Abdominal Wall Defect 37 2.545
10
P SHR029 Short Syndrome 55 2.441
11
LMB010 Lambert Syndrome 36 2.367
12
DPH011 Diaphragmatic Hernia Upper Limb Defects 4 2.367
13
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.367
14
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 2 2.367
15
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 2.367
16
MCR090 Microspherophakia with Hernia 1 2.367
17
c HRN009 Hernia, Congenital Diaphragmatic 1 8 2.350
18
c HRN010 Hernia, Congenital Diaphragmatic 2 8 2.350
19
HRN002 Hernia of Ovary and Fallopian Tube 6 2.350
20
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 5 2.350
21
GRS006 Gershoni-Baruch Syndrome 4 2.350
22
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 2.350
23
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 2 2.350
24
c PRS049 Persistent Mullerian Duct Syndrome 43 1.747
25
DSP001 Displacement of Cardia Through Esophageal Hiatus 7 1.700
26
PGD001 Pagod Syndrome 23 1.683
27
GST056 Gastrocutaneous Syndrome 15 1.683
28
SHP002 Shprintzen-Goldberg Syndrome 30 1.662
29
APL011 Aplasia Cutis Myopia 15 1.662
30
MGR005 Megarbane Syndrome 4 1.662
31
SLB001 Saal Bulas Syndrome 3 1.662
32
P ESP024 Esophagitis 63 0.292
33
c INT070 Intestinal Obstruction 63 0.186
34
HYD005 Hydrocele 50 0.175
35
P HYP075 Hypertension 85 0.131
36
PPT001 Peptic Esophagitis 33 0.115
37
MCK002 Meckel's Diverticulum 40 0.112
38
CRY002 Cryptorchidism 63 0.109
39
ESP020 Esophageal Atresia 57 0.106
40
DDN006 Duodenitis 56 0.106
41
GST034 Gastroesophageal Reflux Disease 64 0.103
42
APP008 Appendicitis 55 0.103
43
P OMP004 Omphalocele 52 0.100
44
ENT001 Enterocele 29 0.096
45
P OBS005 Obesity 89 0.093
46
AND002 Androgen Insensitivity Syndrome 80 0.093
47
GST009 Gastroschisis 66 0.089
48
c HPT021 Hepatitis 64 0.089
49
CRD001 Cardiac Tamponade 55 0.089
50
ANR040 Aneurysm 44 0.089
51
GST064 Gastric Outlet Obstruction 39 0.089
52
ART016 Aortic Aneurysm 70 0.085
53
DPH006 Diaphragmatic Eventration 33 0.085
54
PSD007 Pseudomyxoma Peritonei 67 0.081
55
P ABD003 Abdominal Aortic Aneurysm 67 0.081
56
GST023 Gastric Ulcer 67 0.081
57
c THY032 Thyroiditis 66 0.081
58
PNM008 Pneumothorax 49 0.081
59
c CHR345 Chronic Pain 46 0.081
60
BLD045 Bladder Diverticulum 29 0.081
61
PRT036 Peritonitis 71 0.077
62
c TRT010 Teratoma 55 0.077
63
P LPS002 Liposarcoma 61 0.073
64
P DDN001 Duodenal Ulcer 60 0.073
65
P ADN016 Adenocarcinoma 58 0.073
66
P INF032 Infertility 55 0.073
67
c TYP003 Type I Ehlers-Danlos Syndrome 39 0.073
68
GST007 Gastric Dilatation 28 0.073
69
WND002 Wandering Spleen 28 0.073
70
MRB003 Morbid Obesity 66 0.068
71
LPM004 Lipoma 64 0.068
72
VGN023 Vaginitis 62 0.068
73
WLF002 Wolf-Hirschhorn Syndrome 59 0.068
74
P MLN007 Male Infertility 58 0.068
75
FCL009 Focal Dermal Hypoplasia 57 0.068
76
TRC040 Tracheoesophageal Fistula 48 0.068
77
CHL004 Cholelithiasis 47 0.068
78
TBR010 Tuberculosis 83 0.063
79
c PNC044 Pancreatitis 69 0.063
80
GSG001 Gas Gangrene 67 0.063
81
P BCK002 Beckwith-Wiedemann Syndrome 67 0.063
82
c EHL001 Ehlers-Danlos Syndrome 63 0.063
83
DFC004 Deficiency Anemia 62 0.063
84
CRN005 Craniofrontonasal Syndrome 55 0.063
85
P EHL049 Ehlers–danlos Syndrome Classical Type 53 0.063
86
STS002 Situs Inversus 53 0.063
87
P MCR013 Microphthalmia 52 0.063
88
END072 Endotheliitis 50 0.063
89
PSD009 Pseudohermaphroditism 50 0.063
90
PYL006 Pyloric Stenosis 50 0.063
91
DVR002 Diverticulitis 49 0.063
92
NSP002 Nasopharyngitis 48 0.063
93
FSC004 Fasciitis 45 0.063
94
CRB009 Cerebritis 39 0.063
95
P PLM064 Pulmonary Sequestration 29 0.063
96
DDN009 Duodenal Obstruction 28 0.063
97
MRF001 Marfan Syndrome 83 0.058
98
P CLN016 Colon Cancer 78 0.058
99
LVR012 Liver Cirrhosis 75 0.058
100
MNK001 Menkes Disease 73 0.058
101
WLL003 Williams Syndrome 60 0.058
102
CHL067 Cholecystitis 60 0.058
103
IRN001 Iron Deficiency Anemia 57 0.058
104
PLY012 Polyhydramnios 54 0.058
105
ACH005 Achalasia 54 0.058
106
BLN003 Blindness 52 0.058
107
DYS073 Dysphagia 51 0.058
108
OBS001 Obstructive Jaundice 50 0.058
109
IMP002 Imperforate Anus 48 0.058
110
ABD004 Abdominal Tuberculosis 46 0.058
111
CMP034 Complete Androgen Insensitivity Syndrome 45 0.058
112
SYN036 Syncope 44 0.058
113
NCR007 Necrotizing Fasciitis 44 0.058
114
INT071 Intestinal Perforation 42 0.058
115
P ACH009 Achondrogenesis Type Ib 40 0.058
116
INT052 Intestinal Volvulus 33 0.058
117
RTR012 Retroperitoneal Liposarcoma 23 0.058
118
MLL004 Mallory-Weiss Syndrome 21 0.058
119
NSP010 Nasopharyngeal Teratoma 17 0.058
120
CYS001 Cystic Fibrosis 96 0.052
121
TTR001 Tetralogy of Fallot 74 0.052
122
RNL002 Renal Agenesis 70 0.052
123
P ANG001 Angelman Syndrome 70 0.052
124
OCL005 Oculocerebrorenal Syndrome 69 0.052
125
P RSP003 Respiratory Failure 68 0.052
126
LMY002 Leiomyoma 67 0.052
127
SPN038 Spina Bifida 67 0.052
128
c NPH012 Nephrotic Syndrome 66 0.052
129
P PRT013 Portal Hypertension 66 0.052
130
P SHR002 Short Stature 64 0.052
131
ART019 Aortic Valve Stenosis 64 0.052
132
CHR103 Charge Syndrome 63 0.052
133
WGR001 Wagr Syndrome 59 0.052
134
ANN002 Anencephaly 58 0.052
135
PRC012 Pericardial Effusion 58 0.052
136
P CMP008 Compartment Syndrome 56 0.052
137
MCN001 Mucinous Adenocarcinoma 54 0.052
138
ART001 Arterial Tortuosity Syndrome 54 0.052
139
MCR010 Microcephaly 54 0.052
140
c SPN183 Spontaneous Pneumothorax 52 0.052
141
THR013 Thoracic Outlet Syndrome 52 0.052
142
MNT147 Mental Retardation 51 0.052
143
HYP009 Hypertrophic Pyloric Stenosis 49 0.052
144
HRM002 Hermaphroditism 49 0.052
145
CHY006 Chylous Ascites 48 0.052
146
GLD002 Goldberg-Shprintzen Megacolon Syndrome 46 0.052
147
ACT055 Actinomycosis 46 0.052
148
MDS022 Mediastinitis 46 0.052
149
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.052
150
c MCP012 Mucopolysaccharidosis Ih 44 0.052
151
P HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 43 0.052
152
c PRT096 Peritoneal Mesothelioma 40 0.052
153
MGS001 Megaesophagus 39 0.052
154
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 33 0.052
155
SYN053 Syndromic Diarrhea 32 0.052
156
EHL050 Ehlers–danlos Syndrome Dermatosparaxis Type 31 0.052
157
15Q002 15q24 Microdeletion Syndrome 26 0.052
158
URC005 Urachal Cyst 24 0.052
159
XLN086 X-Linked Ehlers-Danlos Syndrome 17 0.052
160
GSB001 Gas Bloat Syndrome 9 0.052
161
P GST019 Gastrointestinal Stromal Tumor 82 0.045
162
c DBT009 Diabetes Mellitus 78 0.045
163
P NRL016 Neural Tube Defects 77 0.045
164
ANK002 Ankylosing Spondylitis 74 0.045
165
BRR003 Barrett's Esophagus 71 0.045
166
DNY001 Denys-Drash Syndrome 68 0.045
167
P PLM036 Pulmonary Fibrosis 67 0.045
168
c AXN002 Axenfeld-Rieger Syndrome 66 0.045
169
P LRY019 Laryngitis 65 0.045
170
PHR003 Pharyngitis 65 0.045
171
MTT005 Matthew-Wood Syndrome 63 0.045
172
OCC006 Occipital Horn Syndrome 62 0.045
173
c KDN018 Kidney Disease 62 0.045
174
VCT001 Vacterl Association 61 0.045
175
P MLG002 Malignant Peritoneal Mesothelioma 60 0.045
176
EDW001 Edwards Syndrome 59 0.045
177
P PTT014 Pitt-Hopkins Syndrome 59 0.045
178
INT051 Intussusception 58 0.045
179
P CNG401 Congenital Heart Disease 58 0.045
180
MYC002 Mycobacterium Avium Complex Disease 58 0.045
181
P CFF001 Coffin-Siris Syndrome 58 0.045
182
ANR004 Anuria 57 0.045
183
PNC045 Pancreatic Agenesis 57 0.045
184
c MCP009 Mucopolysaccharidosis Ii 56 0.045
185
SMT015 Smith Magenis Syndrome 56 0.045
186
URT001 Urethritis 54 0.045
187
WLL001 Williams-Beuren Syndrome 54 0.045
188
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.045
189
c ACR001 Aicardi-Goutieres Syndrome 53 0.045
190
c HYD002 Hydronephrosis 53 0.045
191
c SMP003 Simpson-Golabi-Behmel Syndrome 53 0.045
192
VRC001 Varicocele 50 0.045
193
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.045
194
TRN044 Transposition of the Great Arteries 49 0.045
195
EHL048 Ehlers–danlos Syndrome Arthrochalasia Type 48 0.045
196
P CRN139 Cornelia De Lange Syndrome 1 47 0.045
197
LYM021 Lymphadenitis 47 0.045
198
SCH016 Schimke Immunoosseous Dysplasia 46 0.045
199
DYS018 Dysostosis 45 0.045
200
ILS001 Ileus 44 0.045
201
MTB004 Metabolic Acidosis 43 0.045
202
LMB052 Lumbar Disc Herniation 42 0.045
203
UTR039 Uterine Fibroid 42 0.045
204
TTR016 Tetra-Amelia Syndrome 41 0.045
205
DDN004 Duodenogastric Reflux 41 0.045
206
c OST108 Osteogenesis Imperfecta Type Xiii 41 0.045
207
P SPN121 Spondylocostal Dysostosis 1 40 0.045
208
P MNN007 Meningocele 40 0.045
209
SPL006 Splenic Infarction 39 0.045
210
P SCH035 Schwartz Jampel Syndrome Type 1 38 0.045
211
ADS002 Adie Syndrome 35 0.045
212
c CTS019 Cutis Laxa, Ad 34 0.045
213
NNT039 Neonatal Marfan Syndrome 32 0.045
214
SCM001 Scimitar Syndrome 32 0.045
215
TRL003 Toriello Carey Syndrome 31 0.045
216
MCH011 Meacham Syndrome 29 0.045
217
TRS012 Trisomy 22 29 0.045
218
HNM002 Hinman Syndrome 27 0.045
219
PNM003 Pneumatosis Cystoides Intestinalis 26 0.045
220
AND005 Androgen Insensitivity Syndrome, Mild 21 0.045
221
SND005 Sandifer Syndrome 16 0.045
222
PLM013 Pulmonary Immaturity 15 0.045
223
ESP029 Esophageal Atresia/tracheoesophageal Fistula 15 0.045
224
P ATX002 Ataxia Telangiectasia 86 0.036
225
P SMT004 Smith-Lemli-Opitz Syndrome 82 0.036
226
P PRM021 Primary Pulmonary Hypertension 82 0.036
227
HPT023 Hepatocellular Carcinoma 79 0.036
228
INC002 Inclusion Body Myositis 77 0.036
229
P PNM007 Pneumonia 76 0.036
230
THY028 Thyroid Cancer 73 0.036
231
c PRM002 Primary Hyperoxaluria 72 0.036
232
c OST005 Osteogenesis Imperfecta 72 0.036
233
P PLL001 Pallister-Hall Syndrome 70 0.036
234
ACN002 Acanthosis Nigricans 69 0.036
235
P HYD006 Hydrocephalus 68 0.036
236
P MLG075 Malignant Mesothelioma 67 0.036
237
PTR006 Peters Plus Syndrome 67 0.036
238
P DGR001 Digeorge Syndrome 67 0.036
239
P SYS005 Systemic Scleroderma 66 0.036
240
P GST044 Gastritis 66 0.036
241
MYS005 Myositis 66 0.036
242
ACR015 Acrocephalosyndactylia 65 0.036
243
CRB037 Cerebral Palsy 65 0.036
244
c MCP001 Mucopolysaccharidosis Iii 64 0.036
245
DNH001 Donohue Syndrome 64 0.036
246
P LMY004 Leiomyosarcoma 64 0.036
247
ULC004 Ulcerative Colitis 63 0.036
248
ARS001 Aarskog-Scott Syndrome 63 0.036
249
P CNJ013 Conjunctivitis 63 0.036
250
ALV006 Alveolar Capillary Dysplasia 63 0.036
251
ISC004 Ischemia 63 0.036
252
TTN003 Tetanus 63 0.036
253
BLR001 Biliary Atresia 62 0.036
254
c MYP004 Myopathy 62 0.036
255
c PLY014 Polycystic Kidney Disease 61 0.036
256
DBL002 Double Outlet Right Ventricle 60 0.036
257
SNG010 Single Median Maxillary Central Incisor 60 0.036
258
OLG003 Oligohydramnios 59 0.036
259
ACR008 Acrocallosal Syndrome 59 0.036
260
SPN020 Spondylosis 59 0.036
261
SLY001 Sly Syndrome 58 0.036
262
AMN001 Amenorrhea 57 0.036
263
HYP266 Hypoxia 57 0.036
264
PTN002 Patent Ductus Arteriosus 57 0.036
265
SNS001 Sensorineural Hearing Loss 57 0.036
266
P WVR001 Weaver Syndrome 56 0.036
267
CRD002 Cri-Du-Chat Syndrome 56 0.036
268
MCR103 Microtia 55 0.036
269
c CTS001 Cutis Laxa 55 0.036
270
P PRM100 Primary Spontaneous Pneumothorax 55 0.036
271
RTN017 Retinal Detachment 55 0.036
272
RDC002 Radiculopathy 55 0.036
273
P HYP040 Hypospadias 55 0.036
274
c DST002 Distal Arthrogryposis 54 0.036
275
CYS014 Cystadenocarcinoma 54 0.036
276
GST050 Gastrointestinal System Disease 54 0.036
277
CNS004 Constipation 53 0.036
278
BLD044 Bladder Disease 53 0.036
279
RTN023 Retinitis 53 0.036
280
c SPN016 Spondylocostal Dysostosis 53 0.036
281
P KLP003 Klippel-Feil Syndrome 53 0.036
282
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.036
283
GST045 Gastroenteritis 53 0.036
284
AND003 Andersen-Tawil Syndrome 53 0.036
285
c CRN015 Cornelia De Lange Syndrome 52 0.036
286
PST087 Posterior Urethral Valve 52 0.036
287
ORC001 Orchitis 52 0.036
288
c NNT009 Neonatal Diabetes Mellitus 52 0.036
289
P CLF002 Cleft Palate 52 0.036
290
ESN005 Eosinophilic Gastroenteritis 52 0.036
291
PYD002 Pyoderma 51 0.036
292
PRT019 Protein-Losing Enteropathy 50 0.036
293
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.036
294
HJD001 Hajdu-Cheney Syndrome 50 0.036
295
ASP002 Aspartylglucosaminuria 49 0.036
296
P NML001 Nemaline Myopathy 49 0.036
297
SMN007 Seminoma 49 0.036
298
ALB002 Albinism 49 0.036
299
PST041 Posterior Urethral Valves 48 0.036
300
ADR027 Adrenocortical Insufficiency 47 0.036
301
P OVR046 Ovarian Cyst 47 0.036
302
FBR019 Fibromatosis 47 0.036
303
DDN011 Duodenal Atresia 46 0.036
304
SCR024 Sacrococcygeal Teratoma 46 0.036
305
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 0.036
306
HMN016 Hemangioendothelioma 45 0.036
307
P AZS001 Azoospermia 45 0.036
308
CRP010 Corpus Callosum Agenesis 44 0.036
309
HRS011 Horseshoe Kidney 44 0.036
310
EXS007 Exstrophy of the Bladder 44 0.036
311
BRS090 Breast Reconstruction 44 0.036
312
P SLD005 Sialidosis Type I 43 0.036
313
PRR010 Pierre Robin Sequence 43 0.036
314
PLR005 Pleuropneumonia 43 0.036
315
P SPR035 Superior Vena Cava Syndrome 42 0.036
316
ARS002 Arsacs 42 0.036
317
P ATX010 Ataxia Neuropathy Spectrum 41 0.036
318
c ACH008 Achondrogenesis Type Ia 41 0.036
319
SWY002 Swyer Syndrome 41 0.036
320
c TYP002 Type Vi Ehlers-Danlos Syndrome 40 0.036
321
P CHR269 Chromosome 9p Deletion 40 0.036
322
EXN003 Exencephaly 40 0.036
323
SRF006 Surfactant Dysfunction 39 0.036
324
MLT054 Multiple Pterygium Syndrome Escobar Type 38 0.036
325
MYC015 Mycobacterium Fortuitum 37 0.036
326
P KLF001 Kleefstra Syndrome 37 0.036
327
TTR004 Tetrology of Fallot 36 0.036
328
EMN001 Emanuel Syndrome 36 0.036
329
PRL008 Paralytic Ileus 36 0.036
330
P 2Q3002 2q37 Microdeletion Syndrome 35 0.036
331
PNT005 Pentalogy of Cantrell 34 0.036
332
IVM001 Ivemark Syndrome 34 0.036
333
P ATP003 Atp6v0a2-Related Cutis Laxa 34 0.036
334
LTR009 Lateral Meningocele Syndrome 33 0.036
335
VSC044 Visceral Myopathy 32 0.036
336
48X003 48,xxyy Syndrome 32 0.036
337
P RBN011 Robinow Syndrome, Autosomal Dominant 32 0.036
338
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.036
339
P CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 30 0.036
340
CRN185 Craniofacial Deafness Hand Syndrome 30 0.036
341
INN003 Iniencephaly 29 0.036
342
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 29 0.036
343
17Q004 17q12 Microdeletion Syndrome 28 0.036
344
EPD046 Epididymitis 28 0.036
345
CLK001 C-Like Syndrome 28 0.036
346
TFT003 Tufting Enteropathy 28 0.036
347
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.036
348
PSL001 Pasli Disease 27 0.036
349
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 27 0.036
350
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 26 0.036
351
IRN002 Iron Metabolism Disease 26 0.036
352
c PRS067 Persistent Mullerian Duct Syndrome, Type I 26 0.036
353
P DST041 Distal Monosomy 3p 25 0.036
354
P HYP078 Hypertrophy of Breast 25 0.036
355
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 24 0.036
356
BDS002 Bod Syndrome 24 0.036
357
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.036
358
INT011 Interstitial Emphysema 24 0.036
359
DYS052 Dyssegmental Dysplasia Silverman-Handmaker Type 23 0.036
360
TLH001 Tel Hashomer Camptodactyly Syndrome 23 0.036
361
c BNG076 Benign Exophthalmos Syndrome 22 0.036
362
LWR007 Lowry Maclean Syndrome 22 0.036
363
SCR025 Scarf Syndrome 22 0.036
364
c TTR012 Tetrasomy 9p 22 0.036
365
LMB013 Limb Reduction Defect 21 0.036
366
P CHR229 Chromosome 20p Duplication 21 0.036
367
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 21 0.036
368
c HTR007 Heterotopia, Periventricular, Ed Variant 19 0.036
369
c KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 19 0.036
370
DFF002 Diffuse Pulmonary Fibrosis 19 0.036
371
CHL076 Chilaiditi Syndrome 18 0.036
372
CRN224 Craniofaciofrontodigital Syndrome 18 0.036
373
MCN018 Mucinous Adenocarcinoma of the Appendix 18 0.036
374
c ANT010 Anterior Compartment Syndrome 17 0.036
375
48X002 48,xxxy Syndrome 17 0.036
376
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 17 0.036
377
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 16 0.036
378
CNG062 Congenital Bronchobiliary Fistula 16 0.036
379
PRX069 Proximal 16p11.2 Microdeletion Syndrome 15 0.036
380
CNG235 Congenital Microgastria 15 0.036
381
TRC038 Tracheobronchomegaly 15 0.036
382
CPR003 Cooper-Jabs Syndrome 15 0.036
383
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 14 0.036
384
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 14 0.036
385
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.036
386
AZY001 Azygos Continuation of the Inferior Vena Cava 13 0.036
387
MCK004 Meckel's Diverticulitis 13 0.036
388
THY053 Thyroid Hormone Plasma Membrane Transport Defect 12 0.036
389
P AMY001 Amyotrophic Lateral Sclerosis 98 0.026
390
P ALZ001 Alzheimer's Disease 97 0.026
391
P NRF002 Neurofibromatosis 93 0.026
392
FBR012 Fabry Disease 81 0.026
393
P CSH001 Cushing's Syndrome 80 0.026
394
ESP021 Esophageal Cancer 80 0.026
395
CRH001 Crohn's Disease 74 0.026
396
GLN003 Glanzmann's Thrombasthenia 73 0.026
397
P FRG001 Fragile X Syndrome 73 0.026
398
P FCL005 Focal Segmental Glomerulosclerosis 72 0.026
399
HYP458 Hyper Ige Syndrome 71 0.026
400
P NRB001 Neuroblastoma 70 0.026
401
P HMN010 Hemangioma 70 0.026
402
c CRN037 Craniosynostosis 70 0.026
403
GLL008 Gilles De La Tourette Syndrome 70 0.026
404
c XRD001 Xeroderma Pigmentosum 70 0.026
405
P END044 Endometriosis 69 0.026
406
c CNG006 Congenital Hypothyroidism 69 0.026
407
BRN024 Bronchitis 69 0.026
408
LKC001 Leukocyte Adhesion Deficiency 68 0.026
409
c MCP005 Mucopolysaccharidosis Vi 68 0.026
410
c HPT016 Hepatitis B 68 0.026
411
ART021 Arteriosclerosis 67 0.026
412
IDP003 Idiopathic Pulmonary Fibrosis 66 0.026
413
MCK007 Muckle-Wells Syndrome 66 0.026
414
P CNV004 Canavan Disease 66 0.026
415
STT001 Status Epilepticus 65 0.026
416
ANR002 Aniridia 65 0.026
417
P MCL015 Mucolipidosis Ii 64 0.026
418
ABT001 Abetalipoproteinemia 64 0.026
419
CST001 Costello Syndrome 64 0.026
420
P MCP004 Mucopolysaccharidosis Iv 64 0.026
421
P FTL006 Fetal Alcohol Spectrum Disorder 64 0.026
422
HMH002 Hemihypertrophy 64 0.026
423
PLM033 Pulmonary Embolism 64 0.026
424
MXD005 Mixed Connective Tissue Disease 63 0.026
425
P ADL010 Adult Respiratory Distress Syndrome 63 0.026
426
c GLL020 Gallbladder Disease 63 0.026
427
CMP002 Campylobacteriosis 63 0.026
428
LRN003 Learning Disability 62 0.026
429
SPN027 Spinal Stenosis 62 0.026
430
PNT028 Pantothenate Kinase-Associated Neurodegeneration 62 0.026
431
P HYP055 Hypoplastic Left Heart Syndrome 62 0.026
432
ART031 Aortic Coarctation 62 0.026
433
PTN001 Patent Foramen Ovale 61 0.026
434
GLD001 Goldenhar Syndrome 61 0.026
435
BBS001 Babesiosis 61 0.026
436
LDD001 Ladd Syndrome 61 0.026
437
DWN001 Down Syndrome 61 0.026
438
ACQ007 Acquired Immunodeficiency Syndrome 61 0.026
439
PLY023 Polycystic Liver Disease 60 0.026
440
ANT009 Antithrombin Iii Deficiency 60 0.026
441
TYP007 Typhoid Fever 60 0.026
442
P FRS003 Fraser Syndrome 60 0.026
443
LMT001 Limited Scleroderma 60 0.026
444
CHL068 Cholestasis 60 0.026
445
PRS047 Prostatitis 60 0.026
446
PRM027 Primitive Neuroectodermal Tumor 60 0.026
447
P SYR001 Syringomyelia 60 0.026
448
XLN001 X-Linked Ichthyosis 60 0.026
449
JCB001 Jacobsen Syndrome 59 0.026
450
P MLS001 Melas Syndrome 59 0.026
451
P MTR005 Mitral Valve Prolapse 59 0.026
452
MYX005 Myxoid Liposarcoma 58 0.026
453
PLY041 Polymyositis 58 0.026
454
HYP063 Hypersplenism 58 0.026
455
NRN001 Neuroendocrine Carcinoma 58 0.026
456
MCK005 Mckusick-Kaufman Syndrome 58 0.026
457
OST017 Osteomyelitis 58 0.026
458
CNN005 Connective Tissue Disease 58 0.026
459
P DBT005 Diabetes Insipidus 57 0.026
460
MYC012 Mycetoma 57 0.026
461
P CRV039 Cervicitis 57 0.026
462
NRL005 Neurilemmoma 57 0.026
463
P FNC044 Fanconi Anemia, Complementation Group C 57 0.026
464
RHB003 Rhabdomyosarcoma 57 0.026
465
PRT039 Proteinuria 57 0.026
466
BRN029 Brain Disease 57 0.026
467
NRF007 Neurofibroma 57 0.026
468
P MYT006 Myotonic Dystrophy Type 1 57 0.026
469
RLY001 Riley-Day Syndrome 57 0.026
470
P DND001 Dandy-Walker Syndrome 57 0.026
471
c THR003 Thoracic Aortic Aneurysm 57 0.026
472
ANK001 Ankylosis 57 0.026
473
P XRD018 Xeroderma Pigmentosum, Group a 57 0.026
474
BRN056 Bronchopulmonary Dysplasia 57 0.026
475
DFF003 Diffuse Scleroderma 56 0.026
476
EPD016 Epidermolysis Bullosa 56 0.026
477
P PLY006 Polydactyly 56 0.026
478
c SCK002 Sick Sinus Syndrome 56 0.026
479
CYS002 Cystic Lymphangioma 56 0.026
480
LRY018 Laryngeal Squamous Cell Carcinoma 56 0.026
481
c LSS002 Lissencephaly 56 0.026
482
ART017 Aortic Disease 56 0.026
483
P HYP097 Hyperekplexia 55 0.026
484
PYD001 Pyoderma Gangrenosum 55 0.026
485
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 55 0.026
486
OST044 Osteoglophonic Dysplasia 55 0.026
487
P OCL013 Oculodentodigital Dysplasia 55 0.026
488
SLT008 Solitary Fibrous Tumor 55 0.026
489
HMS001 Hemosiderosis 55 0.026
490
P DWR001 Dwarfism 55 0.026
491
LYM022 Lymphangioma 54 0.026
492
PRM003 Premature Ejaculation 54 0.026
493
CTY001 Cat Eye Syndrome 54 0.026
494
CCH002 Coach Syndrome 53 0.026
495
MBS002 Moebius Syndrome 53 0.026
496
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.026
497
P RBN002 Robinow Syndrome 53 0.026
498
KLN001 Klinefelter's Syndrome 52 0.026
499
YLL001 Yellow Nail Syndrome 52 0.026
500
HMP005 Hemiplegia 52 0.026
501
CLR003 Clear Cell Adenocarcinoma 52 0.026
502
P ENC008 Encephalocele 52 0.026
503
ULN003 Ulnar-Mammary Syndrome 52 0.026
504
PTS001 Patau Syndrome 52 0.026
505
c WLM002 Wilms Tumor 51 0.026
506
MYC005 Myocardial Stunning 51 0.026
507
SHR001 Short Bowel Syndrome 51 0.026
508
ADN014 Adenomatoid Tumor 51 0.026
509
CLN015 Colon Adenocarcinoma 51 0.026
510
NRG002 Neurogenic Bladder 51 0.026
511
MCN008 Mucinous Cystadenocarcinoma 51 0.026
512
c MCK006 Meckel Syndrome 51 0.026
513
P CST002 Castleman's Disease 50 0.026
514
MLK003 Melkersson-Rosenthal Syndrome 50 0.026
515
ACR012 Aicardi Syndrome 50 0.026
516
GST027 Gastric Lymphoma 50 0.026
517
CYS009 Cystadenoma 50 0.026
518
BLC003 Bloch-Sulzberger Syndrome 50 0.026
519
P NRV007 Nervous System Disease 50 0.026
520
P PLM030 Pleomorphic Rhabdomyosarcoma 49 0.026
521
THR009 Thrombocytopenia-Absent Radius Syndrome 49 0.026
522
c EPS003 Episodic Ataxia 49 0.026
523
P DST010 Distal Arthrogryposis Type 5 49 0.026
524
c INT060 Intestinal Atresia 49 0.026
525
c CNT035 Central Nervous System Disease 49 0.026
526
P GRM009 Germ Cell Tumors 49 0.026
527
PRN038 Prune Belly Syndrome 49 0.026
528
P PND001 Pain Disorder 48 0.026
529
CNT091 Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 48 0.026
530
1P3001 1p36 Deletion Syndrome 48 0.026
531
NRT004 Neuritis 48 0.026
532
GNT031 Genitopatellar Syndrome 47 0.026
533
HYP005 Hypokalemia 47 0.026
534
CNT056 Cantu Syndrome 47 0.026
535
c SCK004 Seckel Syndrome 47 0.026
536
JBS001 Job's Syndrome 47 0.026
537
MCP016 Mecp2 Duplication Syndrome 47 0.026
538
URT010 Ureteral Obstruction 47 0.026
539
ANG054 Angina Pectoris 46 0.026
540
PPT005 Peptic Ulcer Disease 46 0.026
541
INT046 Intestinal Tuberculosis 46 0.026
542
KRT002 Keratomalacia 46 0.026
543
CRN025 Corneal Dystrophy 45 0.026
544
EPL002 Epilepsy Syndrome 45 0.026
545
FBR054 Fibroma 45 0.026
546
RVL002 Ruvalcaba Syndrome 45 0.026
547
P EPS020 Episodic Ataxia Type 1 45 0.026
548
MXD032 Mixed Germ Cell Tumor 45 0.026
549
FRM007 Freeman Sheldon Syndrome 45 0.026
550
MLG098 Malignant Mixed Mullerian Tumor 45 0.026
551
UNL007 Unilateral Renal Agenesis 44 0.026
552
FTL007 Fetal Hydantoin Syndrome 44 0.026
553
c TRC005 Tracheal Stenosis 44 0.026
554
LYM011 Lymphogranuloma Venereum 44 0.026
555
P STC005 Stickler Syndrome Type 1 44 0.026
556
RYN003 Reynolds Syndrome 44 0.026
557
P LRG014 Large Cell Neuroendocrine Carcinoma 44 0.026
558
P CYS017 Cystic Teratoma 44 0.026
559
NRN002 Neuronitis 43 0.026
560
DXT001 Dextrocardia 43 0.026
561
46X018 46xy Sex Reversal 6 43 0.026
562
CHN015 Chondrodysplasia 43 0.026
563
SCH024 Schinzel Giedion Syndrome 43 0.026
564
PCH002 Pachygyria 42 0.026
565
NPH017 Nephrosis 42 0.026
566
MGC004 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 42 0.026
567
P GM1003 Gm1 Gangliosidosis Type 3 42 0.026
568
ENC017 Encephaloceles 42 0.026
569
PRV003 Perivascular Epithelioid Cell Tumor 42 0.026
570
RCT011 Rectal Prolapse 41 0.026
571
c MCL046 Mucolipidosis Iii Alpha/beta 41 0.026
572
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 41 0.026
573
GPS001 Gapo Syndrome 41 0.026
574
PLN006 Poland Syndrome 41 0.026
575
HYP265 Hypotonia 41 0.026
576
c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 40 0.026
577
ACL001 Acalculous Cholecystitis 40 0.026
578
MTR010 Mature Teratoma 40 0.026
579
CRN088 Craniorachischisis 40 0.026
580
PHL006 Phelan-Mcdermid Syndrome 40 0.026
581
LRY029 Laryngomalacia 40 0.026
582
PHM001 Phimosis 40 0.026
583
SKL017 Skeletal Dysplasias 39 0.026
584
c RNG010 Ring Chromosome 15 39 0.026
585
NCL003 Nicolaides Baraitser Syndrome 39 0.026
586
SCL017 Sclerosing Hemangioma 39 0.026
587
P ANP022 Anophthalmia/microphthalmia 38 0.026
588
MYH012 Myhre Syndrome 38 0.026
589
CHR174 Christianson Syndrome 38 0.026
590
RNL025 Renal Hypoplasia 38 0.026
591
TTH001 Tooth Ankylosis 38 0.026
592
BLP004 Blepharophimosis 37 0.026
593
SPS057 Spasticity 37 0.026
594
DXT002 Dextrocardia with Situs Inversus 37 0.026
595
WRN004 Wrinkly Skin Syndrome 37 0.026
596
DST056 Distal 22q11.2 Microdeletion Syndrome 37 0.026
597
P SCH023 Schindler Disease, Type 1 37 0.026
598
IPX001 Ipex Syndrome 37 0.026
599
ESN020 Eosinophilic Granulomatosis with Polyangiitis 36 0.026
600
RTR007 Retroperitoneal Leiomyosarcoma 36 0.026
601
BLR002 Bile Reflux 36 0.026
602
HYP143 Hypomyelination and Congenital Cataract 36 0.026
603
CLF027 Cleft Palate, Isolated 36 0.026
604
P KBK002 Kabuki Syndrome 1 36 0.026
605
c JBR030 Joubert Syndrome 22 35 0.026
606
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 35 0.026
607
HYP264 Hypertonia 35 0.026
608
c OPT048 Opitz-Gbbb Syndrome 34 0.026
609
ABL001 Ablepharon Macrostomia Syndrome 34 0.026
610
TYL002 Tylosis with Esophageal Cancer 34 0.026
611
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 34 0.026
612
SPR007 Superior Mesenteric Artery Syndrome 34 0.026
613
P PRS068 Persistent Mullerian Duct Syndrome, Type Ii 34 0.026
614
FCT013 Factor V Leiden Thrombophilia 33 0.026
615
PLM018 Pulmonary Sclerosing Hemangioma 33 0.026
616
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 33 0.026
617
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 33 0.026
618
P OPT051 Opitz Gbbb Syndrome, Type I 33 0.026
619
OCL034 Oculocerebrocutaneous Syndrome 32 0.026
620
GRD006 Geroderma Osteodysplastica 32 0.026
621
SKT001 Sakati Syndrome 32 0.026
622
CNG122 Congenital Pulmonary Lymphangiectasia 32 0.026
623
HRD028 Hereditary Folate Malabsorption 32 0.026
624
FMR006 Femoral Facial Syndrome 32 0.026
625
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 32 0.026
626
c MNN025 Mannosidosis, Alpha-, Types I and Ii 31 0.026
627
EPD018 Epididymo-Orchitis 31 0.026
628
P INF069 Infantile Neuroaxonal Dystrophy 1 31 0.026
629
DND010 Dandy-Walker Malformation with Mental Retardation Basal Ganglia Disease and Seizures 31 0.026
630
PRT048 Partial Atrioventricular Canal 31 0.026
631
SKL007 Skeletal Muscle Regeneration 31 0.026
632
PRD015 Proud Levine Carpenter Syndrome 30 0.026
633
c PST061 Posterior Polymorphous Corneal Dystrophy 30 0.026
634
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.026
635
CRK001 Cork-Handlers' Disease 30 0.026
636
P OMD001 Omodysplasia 1 29 0.026
637
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 29 0.026
638
OCL033 Oculocerebral Syndrome with Hypopigmentation 29 0.026
639
MNR004 Mounier-Kuhn Syndrome 29 0.026
640
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.026
641
P 49X002 49,xxxxy Syndrome 28 0.026
642
LNZ002 Lenz Majewski Hyperostotic Dwarfism 28 0.026
643
RGH009 Right Atrial Isomerism 28 0.026
644
P CNG151 Congenital Hypothyroidism, Nongoitrous 1 28 0.026
645
DYS011 Dyskinesia of Esophagus 27 0.026
646
STR029 Sternal Cleft 27 0.026
647
MSM004 Mesomelia-Synostoses Syndrome 27 0.026
648
17Q002 17q23.1q23.2 Microdeletion Syndrome 26 0.026
649
3Q2001 3q29 Deletion Syndrome 26 0.026
650
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 26 0.026
651
TRC035 Tracheal Agenesis 26 0.026
652
LNG054 Lung Agenesis 26 0.026
653
CYT004 Cytomegalic Inclusion Disease 26 0.026
654
HYP179 Hypertrichosis Congenital Generalized X-Linked 26 0.026
655
PLM049 Plummer Vinson Syndrome 26 0.026
656
NTR005 Nutritional Deficiency Disease 25 0.026
657
MCR039 Macrophagic Myofasciitis 25 0.026
658
OVR047 Ovarian Cystadenocarcinoma 25 0.026
659
URT016 Urethral Diverticulum 25 0.026
660
GRL002 Gorlin Chaudhry Moss Syndrome 25 0.026
661
ARG004 Argyria 25 0.026
662
ASC004 Ascending Colon Cancer 25 0.026
663
ALP070 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis 24 0.026
664
CHR281 Chronic Hiccups 24 0.026
665
c NML009 Nemaline Myopathy 2, Autosomal Recessive 24 0.026
666
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 24 0.026
667
ACR029 Acrofacial Dysostosis Catania Type 24 0.026
668
CYS015 Cystadenofibroma 24 0.026
669
SCH055 Schilbach-Rott Syndrome 24 0.026
670
PL2001 Pla2g6-Associated Neurodegeneration 24 0.026
671
2P1002 2p15p16.1 Microdeletion Syndrome 24 0.026
672
TCK002 Tick Paralysis 24 0.026
673
MCR073 Microgastria Limb Reduction Defect 23 0.026
674
17P002 17p13.3 Microduplication Syndrome 23 0.026
675
IDP021 Idiopathic Myopathy 23 0.026
676
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 23 0.026
677
MYS010 Myostatin-Related Muscle Hypertrophy 23 0.026
678
PLY031 Polydactyly Myopia Syndrome 23 0.026
679
c 2Q3005 2q31.1 Microdeletion Syndrome 23 0.026
680
c HRD009 Hereditary Wilms' Tumor 22 0.026
681
ART007 Aorta Atresia 22 0.026
682
TRN003 Transverse Colon Cancer 22 0.026
683
3MC002 3mc Syndrome 1 22 0.026
684
SPL022 Split Hand Urinary Anomalies Spina Bifida 22 0.026
685
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 22 0.026
686
BRC019 Brachycephalofrontonasal Dysplasia 22 0.026
687
c CHR266 Chromosome 8p23.1 Deletion 22 0.026
688
JNT001 Joint Laxity, Familial 22 0.026
689
CRN083 Craniofacial Dyssynostosis 22 0.026
690
MSN003 Mesenteric Vascular Occlusion 22 0.026
691
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 21 0.026
692
c CHR224 Chromosome 1q Duplication 21 0.026
693
MRG001 Morgagni Cataract 21 0.026
694
P 7Q1002 7q11.23 Duplication Syndrome 21 0.026
695
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 21 0.026
696
c 46X001 46 Xy Gonadal Dysgenesis 21 0.026
697
17P001 17p11.2 Microduplication Syndrome 21 0.026
698
ACR069 Acro-Renal-Mandibular Syndrome 21 0.026
699
CRN190 Craniosynostosis - Fibular Aplasia 20 0.026
700
GNT017 Genito Palato Cardiac Syndrome 20 0.026
701
P PLM069 Pulmonary Venous Return Anomaly 20 0.026
702
ANR019 Anorectal Atresia 20 0.026
703
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 20 0.026
704
GNT020 Giant Congenital Nevus 20 0.026
705
PRG098 Progéria - Short Stature - Pigmented Nevi 20 0.026
706
WLS004 Wilson-Turner Syndrome 20 0.026
707
ACH018 Achondroplasia and Severe Combined Immunodeficiency 20 0.026
708
c CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.026
709
P MNT109 Mental Retardation, X-Linked, Syndromic 15 20 0.026
710
VSC026 Vesiculitis 19 0.026
711
SCH025 Schisis Association 19 0.026
712
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 19 0.026
713
SHP004 Shprintzen Omphalocele Syndrome 19 0.026
714
MNV001 Manouvrier Syndrome 19 0.026
715
HLP015 Holoprosencephaly - Postaxial Polydactyly 19 0.026
716
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 19 0.026
717
BRD023 Bird Headed Dwarfism Montreal Type 18 0.026
718
BND007 Bone Dysplasia Lethal Holmgren Type 18 0.026
719
16P006 16p11.2p12.2 Microdeletion Syndrome 18 0.026
720
SYM004 Say Meyer Syndrome 18 0.026
721
BLP009 Blepharonasofacial Malformation Syndrome 18 0.026
722
FLT008 Flat Face - Microstomia - Ear Anomaly 18 0.026
723
ISL075 Isolated Pierre Robin Sequence 17 0.026
724
BRC027 Brachydactyly Mononen Type 17 0.026
725
INT240 Intellectual Disability, Wolff Type 17 0.026
726
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 17 0.026
727
PRV001 Parovarian Cyst 17 0.026
728
c 6P2001 6p22 Microdeletion Syndrome 17 0.026
729
14Q001 14q12 Microdeletion Syndrome 17 0.026
730
PRG024 Progeroid Syndrome Petty Type 17 0.026
731
c DST045 Distal Trisomy 6p 17 0.026
732
ANR012 Aniridia Absent Patella 17 0.026
733
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 16 0.026
734
c MNS011 Monosomy 9q22.3 16 0.026
735
SYR004 Syringobulbia 16 0.026
736
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 16 0.026
737
ESN014 Eosinophilic Enteropathy 16 0.026
738
PFF004 Pfeiffer Palm Teller Syndrome 16 0.026
739
CNG092 Congenital Extrahepatic Portosystemic Shunt 16 0.026
740
ESP040 Esophageal Duplication Cyst 16 0.026
741
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 16 0.026
742
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 16 0.026
743
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 16 0.026
744
P ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 16 0.026
745
XLN129 X-Linked Intellectual Disability, Armfield Type 16 0.026
746
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 16 0.026
747
CLL022 Collins Pope Syndrome 16 0.026
748
INT241 Intellectual Disability, Buenos-Aires Type 16 0.026
749
GRX001 Grix Blankenship Peterson Syndrome 16 0.026
750
RCT033 Rectal Duplication 16 0.026
751
RNL040 Renal Genital Middle Ear Anomalies 16 0.026
752
HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 15 0.026
753
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 15 0.026
754
SVR009 Seaver Cassidy Syndrome 15 0.026
755
DSH001 Daish Hardman Lamont Syndrome 15 0.026
756
SBR006 Subaortic Stenosis Short Stature Syndrome 15 0.026
757
c DST038 Distal Monosomy 7q36 15 0.026
758
c SVR048 Severe Canavan Disease 15 0.026
759
FRS008 Froster-Huch Syndrome 15 0.026
760
BNG042 Benign Multicystic Peritoneal Mesothelioma 15 0.026
761
MLL017 MĂĽllerian Derivatives - Lymphangiectasia - Polydactyly 15 0.026
762
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 14 0.026
763
c DST037 Distal Monosomy 9p 14 0.026
764
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 0.026
765
CRN228 Corneal Anesthesia - Deafness - Intellectual Disability 14 0.026
766
ARC018 Arachnodactyly - Abnormal Ossification - Intellectual Disability 14 0.026
767
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 14 0.026
768
THK001 Thakker-Donnai Syndrome 14 0.026
769
ADN026 Adenocarcinoid Tumor 14 0.026
770
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 14 0.026
771
CND009 Conductive Deafness with Malformed External Ear 14 0.026
772
15Q003 15q14 Microdeletion Syndrome 14 0.026
773
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.026
774
MYC060 Mycophenolate Mofetil Embryopathy 14 0.026
775
3MC001 3mc Syndrome 2 14 0.026
776
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 13 0.026
777
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 13 0.026
778
DST071 Distal Monosomy 19p13.3 13 0.026
779
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 13 0.026
780
ACR070 Acro-Pectoro-Renal Dysplasia 13 0.026
781
16P003 16p13.11 Microdeletion Syndrome 13 0.026
782
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 13 0.026
783
c CRP022 Carpenter Syndrome 2 13 0.026
784
c CHR203 Chromosome 16p Duplication 13 0.026
785
NND005 Non-Distal Trisomy 13q 13 0.026
786
FBL005 Fibular Aplasia 12 0.026
787
c 8Q1001 8q12 Microduplication Syndrome 12 0.026
788
FTL024 Fetal Minoxidil Syndrome 12 0.026
789
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 11 0.026
790
CTS024 Cutis Laxa-Marfanoid Syndrome 11 0.026
791
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 11 0.026
792
BRC077 Brachydactyly - Mesomelia - Intellectual Disability - Heart Defects 11 0.026
793
INT234 Intellectual Disability - Hypotonia - Skin Hyperpigmentation 11 0.026
794
INT236 Intellectual Disability - Unusual Facies 11 0.026
795
XLN145 X-Linked Intellectual Disability, Pai Type 11 0.026
796
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 11 0.026
797
PLM045 Palmer Pagon Syndrome 11 0.026
798
MLL008 Mullerian Agenesis 10 0.026
799
KRS001 Krauss Herman Holmes Syndrome 9 0.026
800
LPM001 Lipoma of Spermatic Cord 8 0.026
801
PRC041 Pericardial and Diaphragmatic Defect 7 0.026
802
CNG131 Congenital Unilateral Pulmonary Hypoplasia 7 0.026